Martínez-Matos JA - Search Results

1

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.

Casasnovas C, Banchs I, Corral J, Martínez-Matos JA, Volpini V. Casasnovas C, et al. Clin Genet. 2006 Dec;70(6):516-23. doi: 10.1111/j.1399-0004.2006.00724.x. Clin Genet. 2006. PMID: 17100997

2

Diagnosis of Charcot-Marie-Tooth disease.

Banchs I, Casasnovas C, Albertí A, De Jorge L, Povedano M, Montero J, Martínez-Matos JA, Volpini V. Banchs I, et al. Among authors: martinez matos ja. J Biomed Biotechnol. 2009;2009:985415. doi: 10.1155/2009/985415. Epub 2009 Oct 8. J Biomed Biotechnol. 2009. PMID: 19826499 Free PMC article. Review.

3

Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.

Banchs I, Casasnovas C, Montero J, Volpini V, Martínez-Matos JA. Banchs I, et al. Among authors: martinez matos ja. Muscle Nerve. 2010 Aug;42(2):184-8. doi: 10.1002/mus.21643. Muscle Nerve. 2010. PMID: 20544920

4

Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings.

Banchs I, Casasnovas C, Montero J, Martínez-Matos JA, Volpini V. Banchs I, et al. Among authors: martinez matos ja. Neuromuscul Disord. 2008 Dec;18(12):974-8. doi: 10.1016/j.nmd.2008.09.006. Epub 2008 Nov 8. Neuromuscul Disord. 2008. PMID: 18996695

5

Phenotypic spectrum of MFN2 mutations in the Spanish population.

Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martínez-Matos JA, Bonneau D, Volpini V. Casasnovas C, et al. Among authors: martinez matos ja. J Med Genet. 2010 Apr;47(4):249-56. doi: 10.1136/jmg.2009.072488. Epub 2009 Nov 3. J Med Genet. 2010. PMID: 19889647

6

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

López-Bigas N, Olivé M, Rabionet R, Ben-David O, Martínez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbonés ML, Estivill X. López-Bigas N, et al. Hum Mol Genet. 2001 Apr 15;10(9):947-52. doi: 10.1093/hmg/10.9.947. Hum Mol Genet. 2001. PMID: 11309368

7

Musk-antibody positive myasthenia gravis presenting with isolated neck extensor weakness.

Casasnovas C, Povedano M, Jaumà S, Montero J, Martínez-Matos JA. Casasnovas C, et al. Neuromuscul Disord. 2007 Jul;17(7):544-6. doi: 10.1016/j.nmd.2007.03.007. Epub 2007 May 29. Neuromuscul Disord. 2007. PMID: 17533129

8

Neurological picture. Multifocal acquired demyelinating sensory and motor neuropathy presenting as idiopathic hypertrophic brachial neuropathy.

Simó M, Casasnovas C, Martínez-Yélamos S, Martínez-Matos JA. Simó M, et al. Among authors: martinez matos ja. J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):674-5. doi: 10.1136/jnnp.2008.170597. J Neurol Neurosurg Psychiatry. 2009. PMID: 19448092 No abstract available.

9

Very early electrodiagnostic findings in Guillain-Barré syndrome.

Albertí MA, Alentorn A, Martínez-Yelamos S, Martínez-Matos JA, Povedano M, Montero J, Casasnovas C. Albertí MA, et al. Among authors: martinez matos ja. J Peripher Nerv Syst. 2011 Jun;16(2):136-42. doi: 10.1111/j.1529-8027.2011.00338.x. J Peripher Nerv Syst. 2011. PMID: 21692913

10

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.

Olivé M, Armstrong J, Miralles F, Pou A, Fardeau M, Gonzalez L, Martínez F, Fischer D, Martínez Matos JA, Shatunov A, Goldfarb L, Ferrer I. Olivé M, et al. Neuromuscul Disord. 2007 Jun;17(6):443-50. doi: 10.1016/j.nmd.2007.02.009. Epub 2007 Apr 5. Neuromuscul Disord. 2007. PMID: 17418574 Free PMC article.

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